Ocular albinism is a genetic disease typically affecting the eyes. This condition reduces the iris pigmentation (the color of the retina), which is the colored region of the eye. For normal vision, pigmentation of the eyes is crucial.
It is an inherited disease linked to the X chromosome,(1) which means that most women with the defective gene do not know that they are carriers of this genetic defect. This is because they have a functional copy of the gene on the other chromosomes. They experience little to no symptoms. However, 50-80% of carrier women may have spotted retinal pigmentation that can be detected during an eye exam. Carrier women may also have depigmented areas on their skin, but they never have other eye symptoms such as macular hypoplasia and transillumination of the iris.
Men only have one X chromosome. Therefore, they will develop the disease if they have inherited an X chromosome with the defective version of the gene.
What Are The Ways To Prevent Ocular Albinism?
As it is a genetic disorder, this disease cannot be prevented. People are born with this disorder where they have genetic defects.
The treatment of ocular albinism is symptomatic. This means that the treatment indicates the symptoms rather than the cause. This is because it is a genetic defect that causes malformations in the early development of the eye before birth. Treatment includes regular eye exams, corrective lenses for refractive errors and astigmatism, as well as treatment for strabismus, as they can cause further vision loss if left untreated. A contact lens or normal glasses may be used as corrective lenses.
In more severe cases, glasses with small telescopes mounted on the lenses or hand-held telescopes can improve the results. If the fields of vision of the eyes cross (strabismus), the brain receives a double image. In order to interpret this image, the brain does not take into account the information coming from any one of the eyes. This can cause permanent loss of vision in this eye.
Early treatment of strabismus with eye drops, patches or corrective surgery is therefore very important to preserve vision in both eyes. Treatment is also important to facilitate and stimulate the development of vision in infants and young children. Protection of the eyes from the sunlight is important as this can help avoid permanent damage.(3)(4)
Can Ocular Albinism Reoccur?
Ocular albinism is a genetic disease that cannot be cured and only symptomatic rectification is possible. The problems can change and reoccur at any stage of life. This is why continuous monitoring is essential after the diagnosis of the disease.
What Are The Symptoms Of Ocular Albinism?
Eye color appears normal in patients with ocular albinism at first sight. However, when examined by a specialist, it will be found that light is penetrating the iris. This is called iris transillumination. In healthy people, regardless of their eye color, the iris epithelium contains a dark layer of eumelanin, which makes the iris impenetrable to light.
In patients with ocular albinism, the back of the eye behind the eyeball is colorless or very light in color. The most serious defect concerns the fovea centralis, the small part of the retina responsible for the visual acuity of the central part of the image you visualize. The fovea is not fully developed in patients with ocular albinism. This is also the case of the patient with other forms of albinism such as oculocutaneous albinism type I or II.(2)
Normal Pigmentation Is Necessary For Vision
Scientists believe that the normal eye pigmentation is necessary for the fovea to develop properly during the development of the child in the womb. The malformation of the fovea observed in albinism is called macular hypoplasia. Another malformation present in different forms of albinism, including ocular albinism, is that the nerves of the eye (ocular nerves). In healthy people, the visual images from the two eyes are processed in two spheres of the brain. But in ocular albinism, overlapping of the images from two eyes takes place. People suffering from ocular albinism may not have any discoloration of the skin or hair.(3)
- Giordano F, Simoes S, Raposo G. The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. Proceedings of the National Academy of Sciences. 2011;108(29):11906-11911.
- Brecelj J. Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumors, achiasmia, and ocular albinism: an overview. Documenta Ophthalmologica. 2014;129(2):71-84.
- Kubasch A, Meurer M. Oculocutaneous and ocular albinism. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 2017;68(11):867-875.
- Mártinez‐García M, Montoliu L. Albinism in Europe. The Journal of dermatology. 2013;40(5):319-324.
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- Does Ocular Albinism Cause Red Eyes & What To Do About It?
- How Common Is Ocular Albinism In Females & Does It Affect Life Span?